Varaico: Literature-Extracted Genetic Variants

ABL1

1,795 papers

RefSeq Summary

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activit...

Pfam Domains

SH3_1aa 67–113UCSCSH3 domain

SH2aa 127–202UCSCSH2 domain

PK_Tyr_Ser-Thraa 242–493UCSCProtein tyrosine and serine/threonine kinase

F_actin_bindaa 1025–1130UCSCF-actin binding

Gene Aliases

HGNC Name

ABL proto-oncogene 1, non-receptor tyrosine kinase

HGNC Alias Symbols

JTK7; c-ABL; p150

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005157.6

p.S265R

c.793A>C

Surrounding Variants

1 paper

NM_005157.6

p.S265C

c.793A>T

1 paper

NM_005157.6

p.S265N

c.794G>A

1 paper

NM_005157.6

p.Y264C

c.791A>G

1 paper

NM_005157.6

p.S265R

c.795C>A

1 paper

NM_005157.6

p.S265R

c.795C>G

3 papers

NM_005157.6

p.L266P

c.797T>C

1 paper

NM_005157.6

p.K263R

c.788A>G

1 paper

NM_005157.6

p.T267P

c.799A>C

3 papers

NM_005157.6

p.T267A

c.799A>G

1 paper

NM_005157.6

p.K263E

c.787A>G

1 paper

NM_005157.6

p.K263*

c.787A>T

1 paper

NM_005157.6

p.T267S

c.799A>T